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Aliases for FSIP1 Gene

Aliases for FSIP1 Gene

  • Fibrous Sheath Interacting Protein 1 2 3 5
  • Fibrous Sheath-Interacting Protein 1 3
  • HSD10 3

External Ids for FSIP1 Gene

Previous GeneCards Identifiers for FSIP1 Gene

  • GC15M037609
  • GC15M037679
  • GC15M039892
  • GC15M016735

Summaries for FSIP1 Gene

GeneCards Summary for FSIP1 Gene

FSIP1 (Fibrous Sheath Interacting Protein 1) is a Protein Coding gene. Diseases associated with FSIP1 include Syndromic X-Linked Intellectual Disability Type 10 and Chromosome 3Q29 Microduplication Syndrome.

Additional gene information for FSIP1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FSIP1 Gene

Genomics for FSIP1 Gene

Regulatory Elements for FSIP1 Gene

Enhancers for FSIP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H039620 1.9 FANTOM5 Ensembl ENCODE dbSUPER 15.5 +156.5 156454 10.8 HDGF PKNOX1 FOXA2 SIN3A FEZF1 SLC30A9 ZNF143 FOS ATF7 RUNX3 FSIP1 THBS1 LOC105370785 ENSG00000259279
GH15H039884 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -104.7 -104680 6.9 ELF3 FOXA2 ARID4B RAD21 GATA2 SCRT2 ZNF143 THAP11 ZNF654 SP5 GPR176 EIF2AK4 LOC100505534 ENSG00000200305 FSIP1 GC15P039911 LOC105370786
GH15H039906 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -125.4 -125379 2.6 SOX13 SOX6 JUN HLF MAX CEBPB USF2 JUND POLR2A FOS EIF2AK4 FSIP1 GPR176 GC15P039911 LOC105370786
GH15H039640 1.3 Ensembl ENCODE dbSUPER 10.3 +140.7 140731 2.7 GTF2F1 TBP CTCF JUN ZNF133 CEBPG RFX5 FOSL1 GATA3 RCOR1 FSIP1 LOC105370785 LOC105370941
GH15H039877 1.1 Ensembl ENCODE 11.2 -95.6 -95587 2.6 BACH1 CEBPG FOSL1 IRF9 GTF3C2 ZNF316 POLR3A NCOR1 RCOR1 FOS DNAJC17 ENSG00000259211 BAHD1 FSIP1 EIF2AK4 BMF GPR176 ENSG00000200305 LOC100505534 GC15P039911
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FSIP1 on UCSC Golden Path with GeneCards custom track

Promoters for FSIP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000075400 38 1601 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 SP3

Genomic Locations for FSIP1 Gene

Genomic Locations for FSIP1 Gene
chr15:39,599,529-39,782,838
(GRCh38/hg38)
Size:
183,310 bases
Orientation:
Minus strand
chr15:39,892,232-40,075,039
(GRCh37/hg19)

Genomic View for FSIP1 Gene

Genes around FSIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FSIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FSIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FSIP1 Gene

Proteins for FSIP1 Gene

  • Protein details for FSIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NA03-FSIP1_HUMAN
    Recommended name:
    Fibrous sheath-interacting protein 1
    Protein Accession:
    Q8NA03
    Secondary Accessions:
    • Q6X2C8
    • Q86Y89

    Protein attributes for FSIP1 Gene

    Size:
    581 amino acids
    Molecular mass:
    66121 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FSIP1 Gene

Post-translational modifications for FSIP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FSIP1 Gene

Domains & Families for FSIP1 Gene

Gene Families for FSIP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FSIP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FSIP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NA03

UniProtKB/Swiss-Prot:

FSIP1_HUMAN :
  • Belongs to the FSIP1 family.
Family:
  • Belongs to the FSIP1 family.
genes like me logo Genes that share domains with FSIP1: view

Function for FSIP1 Gene

Phenotypes From GWAS Catalog for FSIP1 Gene

genes like me logo Genes that share phenotypes with FSIP1: view

miRNA for FSIP1 Gene

miRTarBase miRNAs that target FSIP1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FSIP1 Gene

Localization for FSIP1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FSIP1 gene
Compartment Confidence
nucleus 4
mitochondrion 2
cytosol 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FSIP1 Gene

Pathways & Interactions for FSIP1 Gene

SuperPathways for FSIP1 Gene

No Data Available

Interacting Proteins for FSIP1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000280236%0d%0a9606.ENSP00000351327%0d%0a
Selected Interacting proteins: ENSP00000280236 Q8NA03-FSIP1_HUMAN for FSIP1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for FSIP1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FSIP1 Gene

Drugs & Compounds for FSIP1 Gene

(1) Drugs for FSIP1 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved, Vet_approved Pharma Channel blocker 1196
genes like me logo Genes that share compounds with FSIP1: view

Transcripts for FSIP1 Gene

mRNA/cDNA for FSIP1 Gene

(8) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FSIP1 Gene

Fibrous sheath interacting protein 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FSIP1 Gene

No ASD Table

Relevant External Links for FSIP1 Gene

GeneLoc Exon Structure for
FSIP1
ECgene alternative splicing isoforms for
FSIP1

Expression for FSIP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FSIP1 Gene

mRNA differential expression in normal tissues according to GTEx for FSIP1 Gene

This gene is overexpressed in Testis (x10.1).

Protein differential expression in normal tissues from HIPED for FSIP1 Gene

This gene is overexpressed in Brain (42.1) and Testis (24.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FSIP1 Gene



Protein tissue co-expression partners for FSIP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FSIP1 Gene:

FSIP1

SOURCE GeneReport for Unigene cluster for FSIP1 Gene:

Hs.129598
genes like me logo Genes that share expression patterns with FSIP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FSIP1 Gene

Orthologs for FSIP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FSIP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FSIP1 33 34
  • 99.08 (n)
cow
(Bos Taurus)
Mammalia FSIP1 33 34
  • 84.02 (n)
dog
(Canis familiaris)
Mammalia FSIP1 33 34
  • 83.92 (n)
mouse
(Mus musculus)
Mammalia Fsip1 33 16 34
  • 74.87 (n)
rat
(Rattus norvegicus)
Mammalia Fsip1 33
  • 72.67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FSIP1 34
  • 47 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FSIP1 34
  • 38 (a)
OneToOne
chicken
(Gallus gallus)
Aves FSIP1 33 34
  • 57.39 (n)
lizard
(Anolis carolinensis)
Reptilia FSIP1 34
  • 33 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fsip1 33
  • 50.97 (n)
zebrafish
(Danio rerio)
Actinopterygii fsip1 33
  • 47.71 (n)
Species where no ortholog for FSIP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FSIP1 Gene

ENSEMBL:
Gene Tree for FSIP1 (if available)
TreeFam:
Gene Tree for FSIP1 (if available)

Paralogs for FSIP1 Gene

No data available for Paralogs for FSIP1 Gene

Variants for FSIP1 Gene

Sequence variations from dbSNP and Humsavar for FSIP1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000012797 -- 39,688,493(+) GGTAT(C/T)CGAGT intron-variant
rs1000017427 -- 39,639,431(+) CAAAC(-/A)ATTTT intron-variant
rs1000020386 -- 39,669,000(+) TTATG(A/C)GTATT intron-variant
rs1000046771 -- 39,619,862(+) TAGAA(A/G)AAAAA intron-variant
rs1000066470 -- 39,688,780(+) AGCAC(C/T)CAATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FSIP1 Gene

Variant ID Type Subtype PubMed ID
nsv832977 CNV gain 17160897
nsv832978 CNV gain 17160897
nsv832979 CNV gain+loss 17160897
nsv1502 CNV deletion 18451855
nsv1127427 CNV deletion 24896259
nsv1048628 CNV gain 25217958
esv3636219 CNV loss 21293372
esv3569465 CNV gain 25503493
esv2749591 CNV deletion 23290073
esv24232 CNV loss 19812545
esv1286390 CNV insertion 17803354

Variation tolerance for FSIP1 Gene

Residual Variation Intolerance Score: 87.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.51; 92.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FSIP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FSIP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FSIP1 Gene

Disorders for FSIP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for FSIP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
syndromic x-linked intellectual disability type 10
  • hsd10 deficiency, atypical type
chromosome 3q29 microduplication syndrome
  • chromosome 3q29 duplication syndrome
- elite association - COSMIC cancer census association via MalaCards
Search FSIP1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FSIP1

Genetic Association Database (GAD)
FSIP1
Human Genome Epidemiology (HuGE) Navigator
FSIP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FSIP1
genes like me logo Genes that share disorders with FSIP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FSIP1 Gene

Publications for FSIP1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4 60
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  3. Positive association between aspirin-intolerant asthma and genetic polymorphisms of FSIP1: a case-case study. (PMID: 20513247) Kim JY … Shin HD (BMC pulmonary medicine 2010) 3 45 60
  4. Elevated fibrous sheath interacting protein 1 levels are associated with poor prognosis in non-small cell lung cancer patients. (PMID: 28086239) Mao Y … Han Y (Oncotarget 2017) 3 60
  5. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. (PMID: 27432908) Li X … Wang W (Molecular & cellular proteomics : MCP 2016) 3 60

Products for FSIP1 Gene

Sources for FSIP1 Gene

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